Canonical Allele Identifier: CA9363861

Gene: PEPD

Linked Data

• dbSNP Id: rs751844685
• ExAC: 19:33878312 C / CT
• gnomAD v2: 19-33878312-C-CT
• gnomAD v4: 19-33387406-C-CT
• MyVariant Identifiers: chr19:g.33878312_33878313insT (hg19) ; chr19:g.33387406_33387407insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387408dup , CM000681.2:g.33387408dup	GRCh38
NC_000019.9:g.33878314dup , CM000681.1:g.33878314dup	GRCh37
NC_000019.8:g.38570154dup	NCBI36
NG_013358.1:g.139487dup
NG_013358.2:g.139487dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1485dup	ENSP00000468516.4:p.Glu496ArgfsTer3
ENST00000651901.2:c.1509dup	ENSP00000498922.2:p.Glu504ArgfsTer3
ENST00000698359.1:c.1374dup	ENSP00000513682.1:p.Glu459ArgfsTer3
ENST00000698360.1:c.1470dup	ENSP00000513683.1:p.Glu491ArgfsTer3
ENST00000698361.1:c.*47dup	ENSP00000513684.1:n.*47dup
ENST00000698362.1:c.*556dup	ENSP00000513685.1:n.*556dup
ENST00000698426.1:c.1098dup	ENSP00000513713.1:p.Glu367ArgfsTer3
ENST00000698427.1:c.1461dup	ENSP00000513714.1:p.Glu488ArgfsTer3
ENST00000698428.1:c.1098dup	ENSP00000513715.1:p.Glu367ArgfsTer3
ENST00000698429.1:n.1302dup
ENST00000698430.1:c.1669dup
ENST00000698431.1:c.1156dup	ENSP00000513717.1:n.1156dup
ENST00000698432.1:c.1228dup
ENST00000698433.1:n.881dup
ENST00000244137.12:c.1419dup MANE Select	ENSP00000244137.5:p.Glu474ArgfsTer3
ENST00000588328.6:c.1474dup
ENST00000651901.1:c.1505dup
ENST00000244137.11:c.1419dup	ENSP00000244137.5:p.Glu474ArgfsTer3
ENST00000397032.8:c.1296dup	ENSP00000380226.3:p.Glu433ArgfsTer3
ENST00000436370.7:c.1227dup	ENSP00000391890.2:p.Glu410ArgfsTer3
ENST00000589598.5:n.144dup
ENST00000591968.1:n.491dup
ENST00000593085.1:n.1306dup
NM_000285.3:c.1419dup	NP_000276.2:p.Glu474ArgfsTer3
NM_001166056.1:c.1296dup	NP_001159528.1:p.Glu433ArgfsTer3
NM_001166057.1:c.1227dup	NP_001159529.1:p.Glu410ArgfsTer3
NM_000285.4:c.1419dup MANE Select	NP_000276.2:p.Glu474ArgfsTer3
NM_001166056.2:c.1296dup	NP_001159528.1:p.Glu433ArgfsTer3
NM_001166057.2:c.1227dup	NP_001159529.1:p.Glu410ArgfsTer3